Canonical Allele Identifier: CA400201449

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188625-C-T
• COSMIC: COSM4976061
• MyVariant Identifiers: chr17:g.48265986C>T (hg19) ; chr17:g.50188625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188625C>T , CM000679.2:g.50188625C>T	GRCh38
NC_000017.10:g.48265986C>T , CM000679.1:g.48265986C>T	GRCh37
NC_000017.9:g.45620985C>T	NCBI36
NG_007400.1:g.18015G>A , LRG_1:g.18015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3112G>A MANE Select	ENSP00000225964.6:p.Glu1038Lys
ENST00000225964.9:c.3112G>A	ENSP00000225964.5:p.Glu1038Lys
ENST00000511732.1:n.56G>A
NM_000088.3:c.3112G>A , LRG_1t1:c.3112G>A	NP_000079.2:p.Glu1038Lys
XM_005257058.3:c.2842G>A	XP_005257115.2:p.Glu948Lys
XM_005257059.3:c.2194G>A	XP_005257116.2:p.Glu732Lys
XM_011524341.1:c.2914G>A	XP_011522643.1:p.Glu972Lys
XM_005257058.4:c.2842G>A	XP_005257115.2:p.Glu948Lys
XM_005257059.4:c.2194G>A	XP_005257116.2:p.Glu732Lys
NM_000088.4:c.3112G>A MANE Select	NP_000079.2:p.Glu1038Lys